{"Name":"Chronic beryllium disease","DiseaseID__c":"GARD:0000867","id":867,"encodedName":"chronic-beryllium-disease","IsDeleted":false,"Disease_Name_Full__c":"Chronic beryllium disease","Xref_IDs__c":"18121009; C0221052; D001607; DOID:10322; MEDGEN:67440; MONDO:0015274; ORPHA:133","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":1,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0015274","Disease_Description__c":"A pneumoconiosis, characterized by granulomatous inflammation, that occurs in individuals who develop beryllium sensitization (BeS), a cell-mediated immune response to environmental and occupational beryllium exposure. BeS precedes the lung disease that may present with chronic dry cough, fatigue, weight loss, chest pain, and increasing dyspnea.","GARD_Name__c":"Chronic beryllium disease","GARD_Synonym__c":"berylliosis; beryllium granuloma; beryllium poisoning; chronic berylliosis; chronic beryllium lung; chronic beryllium lung disease; chronic beryllium poisoning","Curated_Disease_Description_Source__c":"MONDO:0015274","Curated_Disease_Description__c":"A pneumoconiosis, characterized by granulomatous inflammation, that occurs in individuals who develop beryllium sensitization (BeS), a cell-mediated immune response to environmental and occupational beryllium exposure. BeS precedes the lung disease that may present with chronic dry cough, fatigue, weight loss, chest pain, and increasing dyspnea.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:133","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0015274","ORPHANET_ID__c":"ORPHA:133","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Enfermedad crónica por berilio","Spanish_Description_Source__c":"ORPHA:133","Spanish_Description__c":"Es una neumoconiosis caracterizada por inflamación granulomatosa que se produce en individuos que desarrollan sensibilización al berilio (BeS; por sus siglas en inglés), una respuesta inmunitaria mediada por células ante la exposición ambiental y ocupacional al berilio. La BeS precede a la enfermedad pulmonar, y puede presentarse con tos seca crónica, cansancio, pérdida de peso, dolor torácico y disnea progresiva.","Spanish_Disease_Name__c":"enfermedad crónica por berilio","Spanish_GARD_Synonym__c":"beriliosis; beriliosis crónica; enfermedad pulmonar crónica por berilio","Category_Linearization__c":"ORPHA:97955","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"A pneumoconiosis, characterized by granulomatous inflammation, that occurs in individuals who develop beryllium sensitization (BeS), a cell-mediated immune response to environmental and occupational beryllium exposure. BeS precedes the lung disease that may present with chronic dry cough, fatigue, weight loss, chest pain, and increasing dyspnea.","Curated_Disease_Description_Source__c":"MONDO:0015274","GARD_Synonym__c":"berylliosis; beryllium granuloma; beryllium poisoning; chronic berylliosis; chronic beryllium lung; chronic beryllium lung disease; chronic beryllium poisoning","Name":"Chronic beryllium disease","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"National Jewish Health Beryllium Program","Website__c":"https://www.nationaljewish.org/directory/prevention/beryllium"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Pulmonology","Tag_Category__c":"Disease Category;Specialist","category_description":"Respiratory diseases affect the nose, mouth, throat, voice box, windpipe, lungs, or blood vessels.","curated_tag_name":"Respiratory diseases"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:133"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0000867","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C001607","Source__c":"MONDO:0015274","Xref__c":"D001607"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0221052","Source__c":"C0221052","Xref__c":"C0221052"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=67440","Source__c":"C0221052","Xref__c":"MEDGEN:67440"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=18121009","Source__c":"C0221052; MONDO:0015274","Xref__c":"18121009"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A10322","Source__c":"MONDO:0015274","Xref__c":"DOID:10322"},{"URL__c":"https://www.orpha.net/en/disease/detail/133","Source__c":"MONDO:0015274","Xref__c":"ORPHA:133"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0015274","Source__c":"GARD:0000867","Xref__c":"MONDO:0015274"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:133","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Reduction of total body weight.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001824","HPO_Synonym__c":"Loss of weight","HPO_Name__c":"Weight loss","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:133","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005607","HPO_Synonym__c":"Tracheobronchial anomalies","HPO_Name__c":"Abnormal tracheobronchial morphology","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:133","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Inflammation (due to infection or irritation) of the pharynx.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025439","HPO_Name__c":"Pharyngitis","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:133","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormally low FEV1/FVC (FEV1 - forced expiratory volume in 1 second; FVC forced vital capacity).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030877","HPO_Synonym__c":"Obstructive deficit on pulmonary function test; Obstructive deficit on pulmonary function testing","HPO_Name__c":"Reduced FEV1/FVC ratio","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Procedure_PFT"}},{"Provided_By__c":"ORPHA:133","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A subjective feeling of tiredness characterized by a lack of energy and motivation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012378","HPO_Synonym__c":"Fatigue; Tired; Tiredness","HPO_Name__c":"Fatigue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:133","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012735","HPO_Synonym__c":"Cough; Coughing","HPO_Name__c":"Cough","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:133","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Any anomaly measure by pulmonary function testing, which includes spirometry, measures of diffusing capacity, and plethysmography.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030878","HPO_Synonym__c":"Abnormal pulmonary function test","HPO_Name__c":"Abnormality on pulmonary function testing","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Procedure_PFT"}},{"Provided_By__c":"ORPHA:133","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Lymphocytic interstitial pneumonitis is a benign lymphoproliferative disorder of the lung that is characterized by the presence of a dense, predominantly lymphocytic interstitial infiltrate (lymphocytes, plasma cells, other elements of the lymphoreticular system) that expands the alveolar septa.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006527","HPO_Synonym__c":"Lymphocytic interstitial pneumonitis; Lymphoid interstitial pneumonia; Lymphoid interstitial pneumonitis","HPO_Name__c":"Lymphocytic interstitial pneumonia","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:133","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Swelling of lymph nodes within the mediastinum, the central compartment of the thoracic cavities that contains the heart and the great vessels, the esophagus, and trachea and other structures including lymph nodes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100721","HPO_Synonym__c":"Swollen lymph nodes in center of chest","HPO_Name__c":"Mediastinal lymphadenopathy","Feature_System__c":"Cardiovascular System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:133","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Hypersensitivity pneumonitis involves inhalation of an antigen. This leads to an exaggerated immune response and a following inflammation of the alveoli within the lungs. The main feature of chronic hypersensitivity pneumonitis on lung biopsies is expansion of the interstitium by lymphocytes accompanied by an occasional multinucleated giant cell or loose granuloma. After exposure to the provoking antigen, following symptoms can be seen: fever, chills, malaise, cough, hemoptysis, chest tightness, dyspnea, rash, swelling and headache and can be completely reversible, based on the duration of the illness, categorized as acute (HP:0011009), subacute (HP:0011011), and chronic (HP:0011010).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006516","HPO_Name__c":"Hypersensitivity pneumonitis","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:133","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Replacement of normal lung tissues by fibroblasts and collagen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002206","HPO_Synonym__c":"Pulmonary scarring","HPO_Name__c":"Pulmonary fibrosis","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:133","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"On chest radiographs, ground-glass opacity appears as an area of hazy increased lung opacity, usually extensive, within which margins of pulmonary vessels may be indistinct. On CT scans, it appears as hazy increased opacity of lung, with preservation of bronchial and vascular margins. It is caused by partial filling of airspaces, interstitial thickening (due to fluid, cells, and/or fibrosis), partial collapse of alveoli, increased capillary blood volume, or a combination of these, the common factor being the partial displacement of air. Ground-glass opacity is less opaque than consolidation, in which bronchovascular margins are obscured.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025179","HPO_Synonym__c":"GGO; Ground glass opacities","HPO_Name__c":"Ground-glass opacification","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Imaging_CT"}},{"Provided_By__c":"ORPHA:133","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormal increase or decrease of any CD4+ T cell subpopulation, measured as percentage of total CD4+ T cells in the blood, compared to a reference range for a given sex and age-group.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031392","HPO_Synonym__c":"Abnormal CD4+ T cell subset; Abnormal CD4+ T cell subsets; Abnormal helper T cell proportion; Abnormal proportion of CD4+ T cells; Abnormal proportion of CD4-positive helper T cells; Abnormal proportion of CD4-positive T cells; Abnormal proportion of CD4-positive, alpha-beta T cells; Abnormal proportion of circulating T-helper cells","HPO_Name__c":"Abnormal CD4+ T cell subset proportion","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:133","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Difficult or labored breathing. Dyspnea is a subjective feeling only the patient can rate, e.g., on a Borg scale.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002094","HPO_Synonym__c":"Abnormal breathing; Breathing difficulty; Difficult to breathe; Difficulty breathing; Shortness of breath; Trouble breathing","HPO_Name__c":"Dyspnea","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:133","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002093","HPO_Synonym__c":"Respiratory impairment","HPO_Name__c":"Respiratory insufficiency","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:133","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Immunological states where the immune system produces harmful responses upon reexposure to sensitizing antigens.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100326","HPO_Name__c":"Immunologic hypersensitivity","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:133","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Co-occurrence of reticular and micronodular patterns on pulmonary high-resolution computed tomography.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025393","HPO_Name__c":"Reticulonodular pattern on pulmonary HRCT","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Imaging_CT"}},{"Provided_By__c":"ORPHA:133","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Any morphological abnormality of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011121","HPO_Synonym__c":"Abnormal skin morphology; Abnormal skin structure; Abnormality of skin morphology","HPO_Name__c":"Abnormal skin morphology","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:133","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormal function of the respiratory system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002795","HPO_Synonym__c":"Abnormal respiration; Functional respiratory abnormality","HPO_Name__c":"Abnormal respiratory system physiology","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Disease Category":["Pulmonology"],"Specialist":["Pulmonology"]},"synonyms":["berylliosis"," beryllium granuloma"," beryllium poisoning"," chronic berylliosis"," chronic beryllium lung"," chronic beryllium lung disease"," chronic beryllium poisoning"]}